CA2647793C - Detection d'anomalies chromosomiques a l'aide de polymorphismes mononucleotidiques tandem - Google Patents

Detection d'anomalies chromosomiques a l'aide de polymorphismes mononucleotidiques tandem Download PDF

Info

Publication number
CA2647793C
CA2647793C CA2647793A CA2647793A CA2647793C CA 2647793 C CA2647793 C CA 2647793C CA 2647793 A CA2647793 A CA 2647793A CA 2647793 A CA2647793 A CA 2647793A CA 2647793 C CA2647793 C CA 2647793C
Authority
CA
Canada
Prior art keywords
seq
compl
sequence
pair
size
Prior art date
Legal status (The legal status is an assumption and is not a legal conclusion. Google has not performed a legal analysis and makes no representation as to the accuracy of the status listed.)
Expired - Fee Related
Application number
CA2647793A
Other languages
English (en)
Other versions
CA2647793A1 (fr
Inventor
Aoy Tomita Mitchell
Michael Mitchell
Current Assignee (The listed assignees may be inaccurate. Google has not performed a legal analysis and makes no representation or warranty as to the accuracy of the list.)
University of Louisville Research Foundation ULRF
Original Assignee
University of Louisville Research Foundation ULRF
Priority date (The priority date is an assumption and is not a legal conclusion. Google has not performed a legal analysis and makes no representation as to the accuracy of the date listed.)
Filing date
Publication date
Application filed by University of Louisville Research Foundation ULRF filed Critical University of Louisville Research Foundation ULRF
Publication of CA2647793A1 publication Critical patent/CA2647793A1/fr
Application granted granted Critical
Publication of CA2647793C publication Critical patent/CA2647793C/fr
Expired - Fee Related legal-status Critical Current
Anticipated expiration legal-status Critical

Links

Classifications

    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6876—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes
    • C12Q1/6883—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for diseases caused by alterations of genetic material
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q2600/00—Oligonucleotides characterized by their use
    • C12Q2600/156—Polymorphic or mutational markers
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q2600/00—Oligonucleotides characterized by their use
    • C12Q2600/172—Haplotypes
    • Y—GENERAL TAGGING OF NEW TECHNOLOGICAL DEVELOPMENTS; GENERAL TAGGING OF CROSS-SECTIONAL TECHNOLOGIES SPANNING OVER SEVERAL SECTIONS OF THE IPC; TECHNICAL SUBJECTS COVERED BY FORMER USPC CROSS-REFERENCE ART COLLECTIONS [XRACs] AND DIGESTS
    • Y10—TECHNICAL SUBJECTS COVERED BY FORMER USPC
    • Y10T—TECHNICAL SUBJECTS COVERED BY FORMER US CLASSIFICATION
    • Y10T436/00—Chemistry: analytical and immunological testing
    • Y10T436/14—Heterocyclic carbon compound [i.e., O, S, N, Se, Te, as only ring hetero atom]
    • Y10T436/142222—Hetero-O [e.g., ascorbic acid, etc.]
    • Y10T436/143333—Saccharide [e.g., DNA, etc.]

Landscapes

  • Chemical & Material Sciences (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Health & Medical Sciences (AREA)
  • Organic Chemistry (AREA)
  • Wood Science & Technology (AREA)
  • Analytical Chemistry (AREA)
  • Zoology (AREA)
  • Genetics & Genomics (AREA)
  • Engineering & Computer Science (AREA)
  • Pathology (AREA)
  • Immunology (AREA)
  • Microbiology (AREA)
  • Molecular Biology (AREA)
  • Biotechnology (AREA)
  • Biophysics (AREA)
  • Physics & Mathematics (AREA)
  • Biochemistry (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • General Engineering & Computer Science (AREA)
  • General Health & Medical Sciences (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
  • Investigating Or Analysing Biological Materials (AREA)
CA2647793A 2006-02-28 2007-02-28 Detection d'anomalies chromosomiques a l'aide de polymorphismes mononucleotidiques tandem Expired - Fee Related CA2647793C (fr)

Applications Claiming Priority (3)

Application Number Priority Date Filing Date Title
US77786506P 2006-02-28 2006-02-28
US60/777,865 2006-02-28
PCT/US2007/005399 WO2007100911A2 (fr) 2006-02-28 2007-02-28 Détection d'anomalies chromosomiques à l'aide de polymorphismes mononucléotidiques tandem

Publications (2)

Publication Number Publication Date
CA2647793A1 CA2647793A1 (fr) 2007-09-07
CA2647793C true CA2647793C (fr) 2016-07-05

Family

ID=38293156

Family Applications (1)

Application Number Title Priority Date Filing Date
CA2647793A Expired - Fee Related CA2647793C (fr) 2006-02-28 2007-02-28 Detection d'anomalies chromosomiques a l'aide de polymorphismes mononucleotidiques tandem

Country Status (10)

Country Link
US (3) US7799531B2 (fr)
EP (2) EP2351858B1 (fr)
AT (1) ATE508209T1 (fr)
AU (1) AU2007220991C1 (fr)
CA (1) CA2647793C (fr)
DE (1) DE602007014335D1 (fr)
DK (2) DK2351858T3 (fr)
HK (1) HK1126254A1 (fr)
SI (2) SI2351858T1 (fr)
WO (1) WO2007100911A2 (fr)

Families Citing this family (168)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
AU2003254755B2 (en) 2002-10-16 2007-12-20 Streck, Inc. Method and device for collecting and preserving cells for analysis
US20100216153A1 (en) * 2004-02-27 2010-08-26 Helicos Biosciences Corporation Methods for detecting fetal nucleic acids and diagnosing fetal abnormalities
US8024128B2 (en) * 2004-09-07 2011-09-20 Gene Security Network, Inc. System and method for improving clinical decisions by aggregating, validating and analysing genetic and phenotypic data
EP2703499A1 (fr) * 2005-06-02 2014-03-05 Fluidigm Corporation Analyse utilisant des dispositifs de séparation microfluidiques pour générer des échantillons comprenant une seule cellule
US8515679B2 (en) 2005-12-06 2013-08-20 Natera, Inc. System and method for cleaning noisy genetic data and determining chromosome copy number
US9424392B2 (en) 2005-11-26 2016-08-23 Natera, Inc. System and method for cleaning noisy genetic data from target individuals using genetic data from genetically related individuals
US11111544B2 (en) 2005-07-29 2021-09-07 Natera, Inc. System and method for cleaning noisy genetic data and determining chromosome copy number
US10083273B2 (en) 2005-07-29 2018-09-25 Natera, Inc. System and method for cleaning noisy genetic data and determining chromosome copy number
US10081839B2 (en) 2005-07-29 2018-09-25 Natera, Inc System and method for cleaning noisy genetic data and determining chromosome copy number
US8532930B2 (en) 2005-11-26 2013-09-10 Natera, Inc. Method for determining the number of copies of a chromosome in the genome of a target individual using genetic data from genetically related individuals
US20070027636A1 (en) * 2005-07-29 2007-02-01 Matthew Rabinowitz System and method for using genetic, phentoypic and clinical data to make predictions for clinical or lifestyle decisions
US11111543B2 (en) 2005-07-29 2021-09-07 Natera, Inc. System and method for cleaning noisy genetic data and determining chromosome copy number
US20070178501A1 (en) * 2005-12-06 2007-08-02 Matthew Rabinowitz System and method for integrating and validating genotypic, phenotypic and medical information into a database according to a standardized ontology
ES2595373T3 (es) * 2006-02-02 2016-12-29 The Board Of Trustees Of The Leland Stanford Junior University Prueba genética no invasiva mediante análisis digital
US20100184044A1 (en) * 2006-02-28 2010-07-22 University Of Louisville Research Foundation Detecting Genetic Abnormalities
EP2351858B1 (fr) * 2006-02-28 2014-12-31 University of Louisville Research Foundation Détection d'anomalies chromosomiques du f'tus à l'aide de polymorphismes de nucléotides uniques en tandem
US20100184043A1 (en) * 2006-02-28 2010-07-22 University Of Louisville Research Foundation Detecting Genetic Abnormalities
US8609338B2 (en) * 2006-02-28 2013-12-17 University Of Louisville Research Foundation, Inc. Detecting fetal chromosomal abnormalities using tandem single nucleotide polymorphisms
US20080124721A1 (en) * 2006-06-14 2008-05-29 Martin Fuchs Analysis of rare cell-enriched samples
EP2589668A1 (fr) 2006-06-14 2013-05-08 Verinata Health, Inc Analyse de cellules rares utilisant la division d'échantillons et les marqueurs d'ADN
US8137912B2 (en) * 2006-06-14 2012-03-20 The General Hospital Corporation Methods for the diagnosis of fetal abnormalities
EP2029779A4 (fr) * 2006-06-14 2010-01-20 Living Microsystems Inc Utilisation de génotypage snp fortement parallèle pour diagnostic fétal
US20080050739A1 (en) 2006-06-14 2008-02-28 Roland Stoughton Diagnosis of fetal abnormalities using polymorphisms including short tandem repeats
HUE061020T2 (hu) 2007-07-23 2023-05-28 Univ Hong Kong Chinese Nukleinsav-szekvencia kiegyensúlyozatlanságának meghatározására
US20100112590A1 (en) 2007-07-23 2010-05-06 The Chinese University Of Hong Kong Diagnosing Fetal Chromosomal Aneuploidy Using Genomic Sequencing With Enrichment
US20110086347A1 (en) * 2007-09-28 2011-04-14 Murdoch Childrens Research Institute Cell detection, monitoring and isolation method
US20110033862A1 (en) * 2008-02-19 2011-02-10 Gene Security Network, Inc. Methods for cell genotyping
US8709726B2 (en) * 2008-03-11 2014-04-29 Sequenom, Inc. Nucleic acid-based tests for prenatal gender determination
US20110092763A1 (en) * 2008-05-27 2011-04-21 Gene Security Network, Inc. Methods for Embryo Characterization and Comparison
US20100068711A1 (en) * 2008-07-18 2010-03-18 Xenomics, Inc. Methods of PCR-Based Detection of "Ultra Short" Nucleic Acid Sequences
AU2009279734A1 (en) 2008-08-04 2010-02-11 Natera, Inc. Methods for allele calling and ploidy calling
US8476013B2 (en) * 2008-09-16 2013-07-02 Sequenom, Inc. Processes and compositions for methylation-based acid enrichment of fetal nucleic acid from a maternal sample useful for non-invasive prenatal diagnoses
US8962247B2 (en) 2008-09-16 2015-02-24 Sequenom, Inc. Processes and compositions for methylation-based enrichment of fetal nucleic acid from a maternal sample useful for non invasive prenatal diagnoses
CA3069081C (fr) 2008-09-20 2023-05-23 The Board Of Trustees Of The Leland Stanford Junior University Diagnostic non effractif d'aneuploidie foetale par sequencage
US9127312B2 (en) 2011-02-09 2015-09-08 Bio-Rad Laboratories, Inc. Analysis of nucleic acids
US20100167271A1 (en) * 2008-12-30 2010-07-01 Streck, Inc. Method for screening blood using a preservative that may be in a substantially solid state form
DE202010018561U1 (de) 2009-01-21 2017-08-28 Streck Inc. Blutsammelröhrchen
US11634747B2 (en) 2009-01-21 2023-04-25 Streck Llc Preservation of fetal nucleic acids in maternal plasma
DK2398912T3 (en) 2009-02-18 2017-10-30 Streck Inc Conservation of cell-free nucleic acids
WO2011041485A1 (fr) * 2009-09-30 2011-04-07 Gene Security Network, Inc. Méthode non invasive de détermination d'une ploïdie prénatale
FI3783110T3 (fi) * 2009-11-05 2023-03-02 Fetaalisen genomin analyysi maternaalisesta biologisesta näytteestä
JP5770737B2 (ja) 2009-11-06 2015-08-26 ザ チャイニーズ ユニバーシティ オブ ホンコン サイズに基づくゲノム分析
EP3103883A1 (fr) * 2009-11-09 2016-12-14 Streck, Inc. Stabilisation de l'arn et extraction de l'arn dans des cellules intactes dans un échantillon de sang
EP2504448B1 (fr) * 2009-11-25 2016-10-19 Bio-Rad Laboratories, Inc. Procédés et compositions destinés à détecter un matériel génétique
EP3660165B1 (fr) * 2009-12-22 2023-01-04 Sequenom, Inc. Procédés et kits pour identifier une aneuploïdie
US9260745B2 (en) 2010-01-19 2016-02-16 Verinata Health, Inc. Detecting and classifying copy number variation
US10388403B2 (en) 2010-01-19 2019-08-20 Verinata Health, Inc. Analyzing copy number variation in the detection of cancer
WO2011090556A1 (fr) 2010-01-19 2011-07-28 Verinata Health, Inc. Procédés pour déterminer une fraction d'acide nucléique fœtal dans des échantillons maternels
AU2011207561B2 (en) 2010-01-19 2014-02-20 Verinata Health, Inc. Partition defined detection methods
WO2011091046A1 (fr) * 2010-01-19 2011-07-28 Verinata Health, Inc. Identification de cellules polymorphes dans des mélanges d'adn génomique par séquençage du génome entier
US20120100548A1 (en) 2010-10-26 2012-04-26 Verinata Health, Inc. Method for determining copy number variations
US9323888B2 (en) 2010-01-19 2016-04-26 Verinata Health, Inc. Detecting and classifying copy number variation
EP2848704B1 (fr) * 2010-01-19 2018-08-29 Verinata Health, Inc Procédés pour un séquençage du diagnostic prénatal
US20110312503A1 (en) 2010-01-23 2011-12-22 Artemis Health, Inc. Methods of fetal abnormality detection
US8774488B2 (en) 2010-03-11 2014-07-08 Cellscape Corporation Method and device for identification of nucleated red blood cells from a maternal blood sample
EP2572003A4 (fr) 2010-05-18 2016-01-13 Natera Inc Procédés de classification de ploïdie prénatale non invasive
US20190010543A1 (en) 2010-05-18 2019-01-10 Natera, Inc. Methods for simultaneous amplification of target loci
US11339429B2 (en) 2010-05-18 2022-05-24 Natera, Inc. Methods for non-invasive prenatal ploidy calling
US10316362B2 (en) 2010-05-18 2019-06-11 Natera, Inc. Methods for simultaneous amplification of target loci
US11332793B2 (en) 2010-05-18 2022-05-17 Natera, Inc. Methods for simultaneous amplification of target loci
US11939634B2 (en) 2010-05-18 2024-03-26 Natera, Inc. Methods for simultaneous amplification of target loci
US11332785B2 (en) 2010-05-18 2022-05-17 Natera, Inc. Methods for non-invasive prenatal ploidy calling
US11322224B2 (en) 2010-05-18 2022-05-03 Natera, Inc. Methods for non-invasive prenatal ploidy calling
US11326208B2 (en) 2010-05-18 2022-05-10 Natera, Inc. Methods for nested PCR amplification of cell-free DNA
US11408031B2 (en) 2010-05-18 2022-08-09 Natera, Inc. Methods for non-invasive prenatal paternity testing
US9677118B2 (en) 2014-04-21 2017-06-13 Natera, Inc. Methods for simultaneous amplification of target loci
US20130040375A1 (en) 2011-08-08 2013-02-14 Tandem Diagnotics, Inc. Assay systems for genetic analysis
US20120034603A1 (en) 2010-08-06 2012-02-09 Tandem Diagnostics, Inc. Ligation-based detection of genetic variants
US10167508B2 (en) 2010-08-06 2019-01-01 Ariosa Diagnostics, Inc. Detection of genetic abnormalities
US20130261003A1 (en) 2010-08-06 2013-10-03 Ariosa Diagnostics, In. Ligation-based detection of genetic variants
US11031095B2 (en) 2010-08-06 2021-06-08 Ariosa Diagnostics, Inc. Assay systems for determination of fetal copy number variation
US11203786B2 (en) 2010-08-06 2021-12-21 Ariosa Diagnostics, Inc. Detection of target nucleic acids using hybridization
US10533223B2 (en) 2010-08-06 2020-01-14 Ariosa Diagnostics, Inc. Detection of target nucleic acids using hybridization
US20140342940A1 (en) 2011-01-25 2014-11-20 Ariosa Diagnostics, Inc. Detection of Target Nucleic Acids using Hybridization
US8700338B2 (en) 2011-01-25 2014-04-15 Ariosa Diagnosis, Inc. Risk calculation for evaluation of fetal aneuploidy
BR112013009256A2 (pt) * 2010-10-19 2021-03-30 Koninklijke Philips Electronics N.V Sistema de monitoramento de paciente, método de monitoramento de paciente e programa de computador
EP2633311A4 (fr) * 2010-10-26 2014-05-07 Univ Stanford Dépistage génétique f tal non invasif par analyse de séquençage
US8999644B2 (en) 2010-11-05 2015-04-07 Centre Hospitalier Universitaire Vaudois Method for detecting the presence of a DNA minor contributor in a DNA mixture
CA2821906C (fr) 2010-12-22 2020-08-25 Natera, Inc. Procedes de recherche de paternite prenatale, non invasive
WO2012088348A2 (fr) * 2010-12-23 2012-06-28 Sequenom, Inc. Détection de variations génétiques fœtales
US10131947B2 (en) 2011-01-25 2018-11-20 Ariosa Diagnostics, Inc. Noninvasive detection of fetal aneuploidy in egg donor pregnancies
US20120190021A1 (en) 2011-01-25 2012-07-26 Aria Diagnostics, Inc. Detection of genetic abnormalities
US8756020B2 (en) 2011-01-25 2014-06-17 Ariosa Diagnostics, Inc. Enhanced risk probabilities using biomolecule estimations
EP3546595B1 (fr) 2011-01-25 2023-02-15 Roche Diagnostics GmbH Calcul de risque pour une évaluation d'aneuploïdie foetale
US11270781B2 (en) 2011-01-25 2022-03-08 Ariosa Diagnostics, Inc. Statistical analysis for non-invasive sex chromosome aneuploidy determination
US9994897B2 (en) 2013-03-08 2018-06-12 Ariosa Diagnostics, Inc. Non-invasive fetal sex determination
BR112013020220B1 (pt) 2011-02-09 2020-03-17 Natera, Inc. Método para determinar o estado de ploidia de um cromossomo em um feto em gestação
CN103797129B (zh) 2011-04-12 2016-08-17 维里纳塔健康公司 使用多态计数来解析基因组分数
GB2484764B (en) 2011-04-14 2012-09-05 Verinata Health Inc Normalizing chromosomes for the determination and verification of common and rare chromosomal aneuploidies
US9411937B2 (en) 2011-04-15 2016-08-09 Verinata Health, Inc. Detecting and classifying copy number variation
CN105861712B (zh) 2011-04-18 2021-05-14 迪阿米尔有限责任公司 使用来自体液的miRNA来早期检测和监控轻度认知障碍(MCI)和阿尔茨海默病(AD)的方法
WO2012151391A2 (fr) 2011-05-04 2012-11-08 Streck, Inc. Compositions virales inactivées et leurs procédés de préparation
WO2012177792A2 (fr) 2011-06-24 2012-12-27 Sequenom, Inc. Méthodes et procédés pour estimation non invasive de variation génétique
MY172864A (en) 2011-06-29 2019-12-13 Bgi Shenzhen Co Ltd Noninvasive detection of fetal genetic abnormality
CN103003447B (zh) * 2011-07-26 2020-08-25 维里纳塔健康公司 用于确定样品中存在或不存在不同非整倍性的方法
US8712697B2 (en) 2011-09-07 2014-04-29 Ariosa Diagnostics, Inc. Determination of copy number variations using binomial probability calculations
US9984198B2 (en) 2011-10-06 2018-05-29 Sequenom, Inc. Reducing sequence read count error in assessment of complex genetic variations
US9367663B2 (en) 2011-10-06 2016-06-14 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
CA2850785C (fr) 2011-10-06 2022-12-13 Sequenom, Inc. Methodes et procedes pour evaluation non invasive de variations genetiques
US10196681B2 (en) 2011-10-06 2019-02-05 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
US10424394B2 (en) 2011-10-06 2019-09-24 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
US8688388B2 (en) 2011-10-11 2014-04-01 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
DK2768978T3 (en) 2011-10-18 2017-12-18 Multiplicom Nv Fetal CHROMOSOMAL ANEUPLOIDID DIAGNOSIS
JP6431769B2 (ja) 2012-01-20 2018-11-28 セクエノム， インコーポレイテッド 実験条件を要因として含める診断プロセス
ES2930180T3 (es) 2012-03-02 2022-12-07 Sequenom Inc Métodos para enriquecer ácido nucleico canceroso a partir de una muestra biológica
US9892230B2 (en) 2012-03-08 2018-02-13 The Chinese University Of Hong Kong Size-based analysis of fetal or tumor DNA fraction in plasma
US10385396B2 (en) 2012-04-19 2019-08-20 The Medical College Of Wisconsin, Inc. Highly sensitive surveillance using detection of cell free DNA
EP2852682B1 (fr) 2012-05-21 2017-10-04 Fluidigm Corporation Analyse de particules uniques de populations de particules
US10504613B2 (en) 2012-12-20 2019-12-10 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
US10289800B2 (en) 2012-05-21 2019-05-14 Ariosa Diagnostics, Inc. Processes for calculating phased fetal genomic sequences
US9920361B2 (en) 2012-05-21 2018-03-20 Sequenom, Inc. Methods and compositions for analyzing nucleic acid
US20150105267A1 (en) * 2012-05-24 2015-04-16 University Of Washington Through Its Center For Commercialization Whole genome sequencing of a human fetus
US11261494B2 (en) 2012-06-21 2022-03-01 The Chinese University Of Hong Kong Method of measuring a fractional concentration of tumor DNA
US10497461B2 (en) 2012-06-22 2019-12-03 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
JP2015521862A (ja) 2012-07-13 2015-08-03 セクエノム， インコーポレイテッド 非侵襲性の出生前診断に有用な母体サンプル由来の胎児核酸のメチル化に基づく富化のためのプロセスおよび組成物
AU2013292287A1 (en) 2012-07-19 2015-02-19 Ariosa Diagnostics, Inc. Multiplexed sequential ligation-based detection of genetic variants
US20140100126A1 (en) 2012-08-17 2014-04-10 Natera, Inc. Method for Non-Invasive Prenatal Testing Using Parental Mosaicism Data
US10482994B2 (en) 2012-10-04 2019-11-19 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
US20130309666A1 (en) 2013-01-25 2013-11-21 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
EP2971100A1 (fr) 2013-03-13 2016-01-20 Sequenom, Inc. Amorces pour analyse de la méthylation de l'adn
JP2016518811A (ja) 2013-03-15 2016-06-30 ザ チャイニーズ ユニバーシティ オブ ホンコン 多胎妊娠における胎児ゲノムの決定
LT2981921T (lt) 2013-04-03 2023-02-27 Sequenom, Inc. Neinvazinio genetinių variacijų vertinimo būdai ir procesai
KR102540202B1 (ko) 2013-05-24 2023-06-02 시쿼넘, 인코포레이티드 유전적 변이의 비침습 평가를 위한 방법 및 프로세스
ES2971972T3 (es) 2013-06-13 2024-06-10 Hoffmann La Roche Análisis estadístico para la determinación no invasiva de aneuploidía del cromosoma Y
KR102299305B1 (ko) 2013-06-21 2021-09-06 시쿼넘, 인코포레이티드 유전적 변이의 비침습 평가를 위한 방법 및 프로세스
WO2014210199A2 (fr) 2013-06-25 2014-12-31 Carl Wittwer Procédés de réalisation d'une amplification en chaîne par polymérase et utilisations associées
EP3024323B1 (fr) 2013-07-24 2022-10-19 Streck, Inc. Compositions et méthodes de stabilisation de cellules tumorales circulantes
US10577655B2 (en) 2013-09-27 2020-03-03 Natera, Inc. Cell free DNA diagnostic testing standards
US10262755B2 (en) 2014-04-21 2019-04-16 Natera, Inc. Detecting cancer mutations and aneuploidy in chromosomal segments
WO2015048535A1 (fr) 2013-09-27 2015-04-02 Natera, Inc. Normes d'essais pour diagnostics prénataux
ES2968644T3 (es) 2013-10-04 2024-05-13 Sequenom Inc Métodos y procedimientos para la evaluación no invasiva de variaciones genéticas
CN111863131A (zh) 2013-10-07 2020-10-30 塞昆纳姆股份有限公司 用于非侵入性评估染色体改变的方法和过程
AU2014348273A1 (en) 2013-11-18 2016-06-09 Diamir, Llc Methods of using mIRNAs from bodily fluids for detection and monitoring of Parkinson's disease (PD)
WO2015138774A1 (fr) 2014-03-13 2015-09-17 Sequenom, Inc. Méthodes et procédés d'évaluation non invasive de variations génétiques
AU2015249846B2 (en) 2014-04-21 2021-07-22 Natera, Inc. Detecting mutations and ploidy in chromosomal segments
EP3172341A4 (fr) 2014-07-25 2018-03-28 University of Washington Procédés de détermination de types de tissus et/ou de cellules permettant d'obtenir de l'adn sans cellules, et procédés d'identification d'une maladie ou d'un trouble les employant
WO2016019042A1 (fr) 2014-07-30 2016-02-04 Sequenom, Inc. Méthodes et procédés d'évaluation non invasive de variations génétiques
US11008606B2 (en) 2014-10-10 2021-05-18 Cold Spring Harbor Laboratory Random nucleotide mutation for nucleotide template counting and assembly
US10364467B2 (en) 2015-01-13 2019-07-30 The Chinese University Of Hong Kong Using size and number aberrations in plasma DNA for detecting cancer
CN113957124A (zh) 2015-02-10 2022-01-21 香港中文大学 用于癌症筛查和胎儿分析的突变检测
US11168351B2 (en) 2015-03-05 2021-11-09 Streck, Inc. Stabilization of nucleic acids in urine
EP4428863A2 (fr) 2015-05-11 2024-09-11 Natera, Inc. Procédés et compositions pour déterminer la ploïdie
WO2017004599A1 (fr) 2015-07-01 2017-01-05 Neogenomics Laboratories, Inc. Procédé pour la détection à sensibilité élevée de mutations de myd88
US10253370B2 (en) 2015-08-17 2019-04-09 Neogenomics Laboratories, Inc. High-sensitivity sequencing to detect BTK inhibitor resistance
US20170145475A1 (en) 2015-11-20 2017-05-25 Streck, Inc. Single spin process for blood plasma separation and plasma composition including preservative
KR102490891B1 (ko) * 2015-12-04 2023-01-25 삼성디스플레이 주식회사 표시 장치
US10975436B2 (en) 2016-01-05 2021-04-13 Diamir, Llc Methods of using miRNA from bodily fluids for diagnosis and monitoring of neurodevelopmental disorders
WO2017165458A1 (fr) 2016-03-21 2017-09-28 Diamir, Llc Procédés d'utilisation de micro-arn provenant de liquides corporels pour la détection et la différenciation de maladies neurodégénératives
CN109661476A (zh) * 2016-04-29 2019-04-19 威斯康星州立大学医学院 用于评估胎儿健康的多重优化错配扩增(moma)实时pcr
WO2017214557A1 (fr) 2016-06-10 2017-12-14 Counsyl, Inc. Adaptateurs de séquençage d'acide nucléique et leurs utilisations
WO2018022890A1 (fr) 2016-07-27 2018-02-01 Sequenom, Inc. Classifications de modifications du nombre de copies génétiques
US11506655B2 (en) 2016-07-29 2022-11-22 Streck, Inc. Suspension composition for hematology analysis control
EP3518974A4 (fr) 2016-09-29 2020-05-27 Myriad Women's Health, Inc. Dépistage prénatal non invasif utilisant une optimisation de profondeur itérative dynamique
US11485996B2 (en) 2016-10-04 2022-11-01 Natera, Inc. Methods for characterizing copy number variation using proximity-litigation sequencing
AU2017347790B2 (en) 2016-10-24 2024-06-13 Grail, Inc. Methods and systems for tumor detection
US10011870B2 (en) 2016-12-07 2018-07-03 Natera, Inc. Compositions and methods for identifying nucleic acid molecules
CN106939334B (zh) * 2017-01-13 2021-01-08 天昊生物医药科技（苏州）有限公司 一种孕妇血浆中胎儿dna含量的检测方法
US11694768B2 (en) 2017-01-24 2023-07-04 Sequenom, Inc. Methods and processes for assessment of genetic variations
EP4421489A2 (fr) 2017-01-25 2024-08-28 The Chinese University of Hong Kong Applications diagnostiques utilisant des fragments d'acide nucléique
CA3049139A1 (fr) 2017-02-21 2018-08-30 Natera, Inc. Compositions, procedes, et kits d'isolement d'acides nucleiques
CA3057589A1 (fr) 2017-03-24 2018-09-27 Counsyl, Inc. Appelant de variante de nombre de copies
CA3067637A1 (fr) 2017-06-20 2018-12-27 The Medical College Of Wisconsin, Inc. Evaluation du risque de complication d'une greffe avec l'adn acellulaire total
WO2019010456A1 (fr) * 2017-07-07 2019-01-10 Stephen Quake Diagnostic prénatal non invasif de troubles de gène unique à l'aide d'une pcr numérique à gouttelettes
US10781487B2 (en) 2017-07-24 2020-09-22 Diamir, Llc miRNA-based methods for detecting and monitoring aging
WO2019118926A1 (fr) 2017-12-14 2019-06-20 Tai Diagnostics, Inc. Évaluation de la compatibilité d'une greffe pour la transplantation
EP3781714A1 (fr) 2018-04-14 2021-02-24 Natera, Inc. Procédés de détection et de surveillance du cancer au moyen d'une détection personnalisée d'adn tumoral circulant
US11525159B2 (en) 2018-07-03 2022-12-13 Natera, Inc. Methods for detection of donor-derived cell-free DNA
US11931674B2 (en) 2019-04-04 2024-03-19 Natera, Inc. Materials and methods for processing blood samples

Family Cites Families (26)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US777865A (en) 1903-09-08 1904-12-20 Gen Electric Steam or gas turbine.
GB9704444D0 (en) 1997-03-04 1997-04-23 Isis Innovation Non-invasive prenatal diagnosis
US6187540B1 (en) * 1998-11-09 2001-02-13 Identigene, Inc. Method of newborn identification and tracking
WO2000034652A2 (fr) 1998-12-09 2000-06-15 Thilly William G Procedes se rapportant a l'identification de mutations ponctuelles dans un genome
USH2191H1 (en) * 2000-10-24 2007-06-05 Snp Consortium Identification and mapping of single nucleotide polymorphisms in the human genome
GB0104690D0 (en) * 2001-02-26 2001-04-11 Cytogenetic Dna Services Ltd Diagnostic test
FR2824144B1 (fr) * 2001-04-30 2004-09-17 Metagenex S A R L Methode de diagnostic prenatal sur cellule foetale isolee du sang maternel
US6979541B1 (en) * 2001-07-26 2005-12-27 University Of Utah Research Foundation Methods for identifying chromosomal aneuploidy
US20030082606A1 (en) 2001-09-04 2003-05-01 Lebo Roger V. Optimizing genome-wide mutation analysis of chromosomes and genes
WO2003062441A1 (fr) 2002-01-18 2003-07-31 Genzyme Corporation Procedes de detection d'adn foetal et de quantification d'alleles
US6977162B2 (en) 2002-03-01 2005-12-20 Ravgen, Inc. Rapid analysis of variations in a genome
US7442506B2 (en) 2002-05-08 2008-10-28 Ravgen, Inc. Methods for detection of genetic disorders
US7727720B2 (en) 2002-05-08 2010-06-01 Ravgen, Inc. Methods for detection of genetic disorders
JP2006521086A (ja) 2003-02-28 2006-09-21 ラブジェン， インコーポレイテッド 遺伝子疾患の検出方法
US8394582B2 (en) 2003-03-05 2013-03-12 Genetic Technologies, Inc Identification of fetal DNA and fetal cell markers in maternal plasma or serum
EP2354253A3 (fr) * 2003-09-05 2011-11-16 Trustees of Boston University Procede de diagnostic prenatal non effractif
US7655399B2 (en) 2003-10-08 2010-02-02 Trustees Of Boston University Methods for prenatal diagnosis of chromosomal abnormalities
EP1524321B2 (fr) 2003-10-16 2014-07-23 Sequenom, Inc. Détection non invasive de traits génétiques létaux
AU2004286845A1 (en) 2003-10-30 2005-05-19 Tufts-New England Medical Center Prenatal diagnosis using cell-free fetal DNA in amniotic fluid
KR100808312B1 (ko) 2004-07-26 2008-02-27 홍경만 인위적 에스엔피 서열의 동시증폭을 이용한 염색체,유전자, 혹은 특정 뉴클레오티드 서열의 카피 수 측정방법
GB0523276D0 (en) 2005-11-15 2005-12-21 London Bridge Fertility Chromosomal analysis by molecular karyotyping
US8609338B2 (en) * 2006-02-28 2013-12-17 University Of Louisville Research Foundation, Inc. Detecting fetal chromosomal abnormalities using tandem single nucleotide polymorphisms
US20100184044A1 (en) * 2006-02-28 2010-07-22 University Of Louisville Research Foundation Detecting Genetic Abnormalities
EP2351858B1 (fr) * 2006-02-28 2014-12-31 University of Louisville Research Foundation Détection d'anomalies chromosomiques du f'tus à l'aide de polymorphismes de nucléotides uniques en tandem
FI3783110T3 (fi) 2009-11-05 2023-03-02 Fetaalisen genomin analyysi maternaalisesta biologisesta näytteestä
EP2848704B1 (fr) * 2010-01-19 2018-08-29 Verinata Health, Inc Procédés pour un séquençage du diagnostic prénatal

Also Published As

Publication number Publication date
DK2351858T3 (da) 2015-04-07
CA2647793A1 (fr) 2007-09-07
DK1996728T3 (da) 2011-08-15
SI2351858T1 (sl) 2015-06-30
AU2007220991A1 (en) 2007-09-07
US8663921B2 (en) 2014-03-04
DE602007014335D1 (de) 2011-06-16
SI1996728T1 (sl) 2011-10-28
WO2007100911A2 (fr) 2007-09-07
US7799531B2 (en) 2010-09-21
AU2007220991B2 (en) 2013-05-02
HK1126254A1 (en) 2009-08-28
EP1996728A2 (fr) 2008-12-03
EP2351858B1 (fr) 2014-12-31
US20110059451A1 (en) 2011-03-10
ATE508209T1 (de) 2011-05-15
WO2007100911A3 (fr) 2007-11-15
US20080020390A1 (en) 2008-01-24
EP1996728B1 (fr) 2011-05-04
EP2351858A1 (fr) 2011-08-03
AU2007220991C1 (en) 2013-08-15
US9181586B2 (en) 2015-11-10
US20130231252A1 (en) 2013-09-05

Similar Documents

Publication Publication Date Title
CA2647793C (fr) Detection d'anomalies chromosomiques a l'aide de polymorphismes mononucleotidiques tandem
US10081841B2 (en) Detecting fetal chromosomal abnormalities using tandem single nucleotide polymorphisms
ES2398233T3 (es) Un método para la detección de aneuploidías cromosómicas
US8399195B2 (en) Detecting genetic abnormalities
EP2118298B1 (fr) Tests a base d'acide nucléique destinés au typage rhd
EP3505642B1 (fr) Détection non invasive de l'aneuploïdie f tale dans des grossesses à donneuse d'ovocyte
US20100184043A1 (en) Detecting Genetic Abnormalities
WO2010045617A2 (fr) Détection d'anomalies génétiques
WO2012114075A1 (fr) Procédé de traitement d'adn maternel et fœtal
WO2011062258A1 (fr) Ensemble d'amorces pour l'amplification du gène mthfr, réactif d'amplification du gène mthfr le comprenant et son utilisation
EP2195448B1 (fr) Procédé de prédiction de la couleur de l'iris
EP2149612A1 (fr) Marqueurs génétiques de réponse à l'efalizumab

Legal Events

Date Code Title Description
EEER Examination request
MKLA Lapsed

Effective date: 20190228